Journal article
Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress
JK Knowles, I Helbig, CS Metcalf, L Lubbers, LL Isom, S Demarest, EM Goldberg, AL George, H Lerche, S Weckhuysen, V Whittemore, SF Berkovic, DH Lowenstein
Epilepsia | Published : 2022
DOI: 10.1111/epi.17332
Abstract
The genetic basis of many epilepsies is increasingly understood, giving rise to the possibility of precision treatments tailored to specific genetic etiologies. Despite this, current medical therapy for most epilepsies remains imprecise, aimed primarily at empirical seizure reduction rather than targeting specific disease processes. Intellectual and technological leaps in diagnosis over the past 10 years have not yet translated to routine changes in clinical practice. However, the epilepsy community is poised to make impressive gains in precision therapy, with continued innovation in gene discovery, diagnostic ability, and bioinformatics; increased access to genetic testing and counseling; f..
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Awarded by Hartwell Foundation
Funding Acknowledgements
I.H. was supported by the Hartwell Foundation through an Individual Biomedical Research Award. This work was also supported by the National Institutes of Health/National Institute of Neurological Disorders and Stroke (NIH/NINDS; K02 NS112600), including support through the Channelopathy-Associated Epilepsy Research Center Without Walls (U54 NS108874), the Eunice Kennedy Shriver National Institute of Child Health and Human Development through the Intellectual and Developmental Disabilities Research Center at Children's Hospital of Philadelphia and the University of Pennsylvania (U54 HD086984), and intramural funds of the Children's Hospital of Philadelphia through the Epilepsy NeuroGenetics Initiative. Research reported in this publication was also supported by the NIH National Center for Advancing Translational Sciences under award number UL1TR001878. This project was also supported in part by the Institute for Translational Medicine and Therapeutics' Transdisciplinary Program in Translational Medicine and Therapeutics at the Perelman School of Medicine of the University of Pennsylvania. C.S.M. is supported by HHSN271201600048C, Screening of Investigational Compounds to Treat, Modify or Prevent Epilepsy for the NIH/NINDS Epilepsy Therapy Screening Program. J.K.K. is supported by NIH/NINDS K08NS119800, NIH/NINDS K12NS098482, the Taking Flight and Research Continuity awards from the CURE Epilepsy Foundation, the Elterman Award from the Child Neurology Society/Child Neurology Foundation, and the Stanford Maternal and Child Health Research Institute. E.M.G. is supported by NIH/NINDS K08 NS097633 and the Burroughs Wellcome Fund Career Award for Medical Scientists. A.L.G. is supported by NIH/NINDS U54 NS108874. L.L.I. is supported by NIH/NINDS R37 NS076752 and by a research grant to the University of Michigan from Stoke Therapeutics. H.L. is supported by grants from the German Research Foundation (Research Unit For-2715, grant Le1030/23-1), and the Federal Ministry of Education and Research in Germany (Treat-ION, 01GM1907A). S.F.B. is supported by a National Health and Medical Research Council Program Grant (ID: 1091593). S.D. has funding from NIH/NINDS U01NS114312, International Foundation for CDKL5 Research, Project 8P Foundation, and Mila's Miracle Foundation. S.W. is supported by grants from the Fonds Wetenschappelijk Onderzoek Fund and European Joint Program on Rare Diseases (1861419N, G041821N, TreatKCNQ). L.S.L, V.W., and D.H.L. have no funding sources to report.